A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases

Por Vaz, Sara O., Pires, Renato, Pires, Luís M., Carreira, Isabel M., Anjos, Rui, Maciel, Paula, Mota-Vieira, Luisa
Publicado no BMC Pediatr (2015)

Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication

Por Pires, Renato, Pires, Luís M, Vaz, Sara O, Maciel, Paula, Anjos, Rui, Moniz, Raquel, Branco, Claudia C, Cabral, Rita, Carreira, Isabel M, Mota-Vieira, Luisa
Publicado no BMC Genet (2014)